TOPORS

TOP1 binding arginine/serine rich protein, E3 ubiquitin ligase

Ensembl:
ENSG00000197579
UniProt:
Q9NS56
OMIM:
609507
Synonyms:
LUN, RP31, TP53BPL

Cilia effects upon perturbation of TOPORS

Ciliogenesis screen results (3 screens)

  • Wheway et al. 2015 (siRNA) [siRNA]: Ciliogenesis Defect (z=-5.63) PMID:26167766
  • Breslow et al. 2018 (CRISPR) [CRISPR]: No Significant Effect PMID:29459680
  • Roosing et al. 2015 (siRNA) [siRNA]: No effect PMID:26595381

Phenotypes

Mouse phenotype:
decreased heart rate, decreased circulating serum albumin level, hyperactivity, decreased bone mineral content, decreased lean body mass, increased total body fat amount, decreased circulating total protein level, cornea opacity, decreased erythrocyte cell number, prolonged rr interval, increased circulating alkaline phosphatase level, increased vertical activity, increased circulating glucose level, decreased heart weight, prolonged qt interval, decreased hematocrit
Mouse ciliopathy phenotype:
female infertility, abnormal auditory brainstem response, cataract
Human ciliopathy phenotype:
retinitis pigmentosa; retinitis pigmentosa 31

Ciliopathy associations

  • Joubert Syndrome
  • Retinal Dystrophy/Degeneration

Subcellular localization

basal body, centrosome, cilia, nucleus

Functional category

  • Ciliary assembly/disassembly
  • Signaling (Hedgehog, GPCRs, ion channels)
  • Transition zone

Function

Component of the photoreceptor sensory cilium. Potential role in the regulation of primary cilia-dependent photoreceptor development and function. Knockdown leads to increased cell death in the reti of zebrafish (21159800). Mutations have been associated with autosomal domi nt retinitis pigmentosa (17924349, 18509552).

Model organism evidence

Danio rerio (1 reference)

Here, we demonstrate that TOPORS is a novel component of the photoreceptor sensory cilium, which is a modified primary cilium involved with polarized trafficking of proteins.

PMIDs: 21159800